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Diseases
Genes (884)
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TTPA
Familial Isolated Vitamin E Deficiency
COL2A1
Collagen, Type Ii, Alpha-1
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
LMNA
Adenoid Cystic Carcinoma
Limb–girdle Muscular Dystrophy
ACTG2
Berdon Syndrome
GNE
Limb–girdle Muscular Dystrophy
Salla Disease
DMPK
Myotonic Dystrophy
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
PAH
Phenylketonuria
SGCG
Limb–girdle Muscular Dystrophy
MYOT
Limb–girdle Muscular Dystrophy
DES
Limb–girdle Muscular Dystrophy
CAV3
Limb–girdle Muscular Dystrophy
ASS1
Citrullinemia Type I